POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment

被引：0
|
作者：
Mehawej, C. [3 ]
Chouery, E. [3 ]
Azar-Atallah, S. [3 ]
Shebaby, W. [3 ]
Delague, V. [1 ]
Mansour, I. [2 ]
Lefranc, G. L. [4 ]
Mustapha, M. [5 ]
Megarbane, A. [5 ]
机构：
[1] Aix Marseille Univ, INSERM, MMG, U 1251 Marseille, Aix En Provence, France
[2] Amer Univ Sci & Technol, Beirut, Lebanon
[3] Lebanese Amer Univ, Beirut, Lebanon
[4] Univ Montpellier, Montpellier, France
[5] Univ Sheffield, Sheffield, England
来源：
CLINICA CHIMICA ACTA | 2024年 / 558卷
关键词：
D O I：
10.1016/j.cca.2024.118291
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
P1064
引用
收藏
页数：1
相关论文
共 50 条
  • [31] Two Cases of Severe Combined Immunodeficiency Caused By Adenosine Deaminase Deficiency
    Patiroglu, Turkan
    Gungor, Hatice Eke
    Akar, Himmet Haluk
    Unal, Ekrem
    Kurtoglu, Selim
    JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE, 2014, 5 : 463 - 465
  • [32] A girl with diabetes and severe combined immunodeficiency from adenosine deaminase deficiency
    Stoppoloni, G
    Iafusco, D
    Amodeo, BM
    DeFelice, E
    Toraldo, R
    Betterle, C
    Notarangelo, LD
    Tosi, G
    Accolla, RS
    Prisco, F
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 1997, 10 (04): : 425 - 428
  • [33] Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency
    Almutairi, Abduarahman
    Wallace, Jacqueline G.
    Jaber, Faris
    Alosaimi, Mohammed F.
    Jones, Jennifer
    Sallam, Mohamed T. H.
    Elnagdy, M. H.
    Chou, Janet
    Sobh, Ali
    Geha, Raif S.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2020, 145 (06) : 1696 - +
  • [34] A DEFICIENCY OF THE ZAP-70 PROTEIN-TYROSINE KINASE (PTK) IS ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY (SCID)
    CHAN, AC
    KADLECEK, T
    ELDER, M
    IWASHIMA, M
    PARSLOW, T
    FILIPOVICH, AH
    WEISS, A
    CLINICAL RESEARCH, 1994, 42 (02): : A310 - A310
  • [35] Effect of CD3δ deficiency on maturation of α/β and γ/δ T-cell lineages in severe combined immunodeficiency
    Dadi, HK
    Simon, AJ
    Roifman, CM
    NEW ENGLAND JOURNAL OF MEDICINE, 2003, 349 (19): : 1821 - 1828
  • [36] A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy
    Vaz, Raquel
    Wincent, Josephine
    Elfissi, Najla
    Rosengren Forsblad, Kristina
    Pettersson, Maria
    Naess, Karin
    Wedell, Anna
    Wredenberg, Anna
    Lindstrand, Anna
    Ygberg, Sofia
    BIOMEDICINES, 2022, 10 (12)
  • [37] Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency
    Kamili, Qurat Ul Ain
    Seeborg, Filiz O.
    Saxena, Kapil
    Nicholas, Sarah K.
    Banerjee, Pinaki P.
    Angelo, Laura S.
    Mace, Emily M.
    Forbes, Lisa R.
    Martinez, Caridad
    Wright, Teresa S.
    Orange, Jordan S.
    Hanson, Imelda Celine
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 134 (06) : 1451 - 1453
  • [38] IMPLEMENTATION OF NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY (SCID) AND SEVERE T CELL DEFICIENCY IN SWITZERLAND
    Fingerhut, R.
    Ozsahin, H.
    Baumgartner, M.
    Reichenbach, J.
    SWISS MEDICAL WEEKLY, 2018, 148 : 13S - 13S
  • [39] ABSENCE OF ERYTHROCYTE ADENOSINE DEAMINASE ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY
    YOUNT, J
    NICHOLS, P
    OCHS, HD
    HAMMAR, SP
    SCOTT, CR
    CHEN, SH
    GIBLETT, ER
    WEDGWOOD, RJ
    JOURNAL OF PEDIATRICS, 1974, 84 (02): : 173 - 177
  • [40] JAK3-deficient severe combined immunodeficiency
    Notarangelo, LD
    Candotti, F
    IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA, 2000, 20 (01) : 97 - +
12345